Canonical Allele Identifier: CA359060910
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1432623T>A , CM000667.2:g.1432623T>A GRCh38
NC_000005.9:g.1432738T>A , CM000667.1:g.1432738T>A GRCh37
NC_000005.8:g.1485738T>A NCBI36
NG_015885.1:g.17806A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.494A>T MANE Select ENSP00000270349.9:p.His165Leu
ENST00000270349.11:c.494A>T ENSP00000270349.9:p.His165Leu
NM_001044.4:c.494A>T NP_001035.1:p.His165Leu
NM_001044.5:c.494A>T MANE Select NP_001035.1:p.His165Leu